Volume 14.2
Dec 2016
In Memoriam:
Melvin M. Grumbach, MD, (1925-2016) Pediatric Endocrinologist, Scientist, Educator, Leader
Walter L. Miller, MD
In Memoriam:
Margaret H. MacGillivray, MD (1930-2016)
Teresa Quattrin, MD
For Debate:
Growth Hormone Treatment of Infants Born Small for Gestational Age should be Started at or before the First Year of Age
Zvi Laron, MD, PhD (h.c), Tamar Laron-Kenet, MD, Gil Klinger, MD
Abstract
Children born small for gestational age without
early catch-up of somatic growth and head
circumference subsequently remain short and
suffer from various degrees of neurocognitive and
psychological impairment. Based upon the role of
growth hormone (GH) and insulin-like growth factor-I
on early brain growth and maturation, we propose that
GH treatment of these infants be instituted prior to
their 2nd birthday.
Ref: Ped. Endocrinol. Rev. 2016;14(2):105-108
doi: 10.17458/PER.2016.LLK.FD.Growthhormonetreatment
Key words: Small for Gestational Age (SGA), Short
stature, Neuro-Motor retardation, Cognitive deficit,
Learning difficulties, GH treatment
Disorders of Adrenal Steroidogenesis:Impact on Gonadal Function and Sex Development
Christiaan F. Mooij, MD, Antonius E. van Herwaarden, PhD,
Hedi L. Claahsen - van der Grinten, MD, PhD
Abstract
A defect in adrenal steroidogenesis may cause a
disorder of sex development (DSD). Importantly,
DSD of adrenal origin is not restricted to
a genital phenotype but is in most cases accompanied
by mild to severe impairment in glucocorticoid and/or
mineralocorticoid synthesis. If a patient is suspected of
DSD of adrenal origin evaluation of glucocorticoid and
mineralocorticoid metabolism is therefore essential to
provide adequate medical care in the case of a severe
and potentially life-threatening insufficiency. The
adrenal steroidogenic defects causing DSD, their clinical
features and diagnostic work-up are discussed. In this
review we provide an overview of defects in the adrenal
steroidogenesis and its impact on gonadal function and sex
development.
Ref: Ped. Endocrinol. Rev. 2016;14(2):109-128
doi: 10.17458/PER.2016.MEC.DisordersofAdrenal
Key words: Disorders of sexual development,
Steroidogenesis, Adrenal, Gonad
Surgery in Focal Congenital Hyperinsulinism (CHI) – The “Hyperinsulinism Germany International” Experience in 30 Children
Winfried Barthlen, MD, Emine Varol, MD, Susann Empting, Ilse Wieland, PhD, Martin Zenker, MD, Wolfgang Mohnike, MD, Silke Vogelgesang, MD, Klaus Mohnike, MD
Abstract
Objective
Results of surgery for focal CHI in 30 children
Patients and Methods
All showed an ABCC8 or KCNJ11 mutation. After PET/
CT in 29 children and PET/MRT in 1 case, frozen-section
guided resection was performed, in left-sided cases by
laparoscopy. Mean age at surgery was 11.7 months (2-49).
Results
In 28/30 children, the PET/CT or MRT correlated with
histopathology. In two cases, a focal lesion was undectable;
one of these was cured, one not.
In total, 24 children showed lesions with sizes of 5-12 mm.
All were cured instantly. In four children with huge lesions
in the pancreatic head, pathological cells remained at
the resection margins. One child was cured instantly, two
children after a 2nd surgery, and one child was not cured,
even after three surgeries. The overall cure rate was 93%.
Conclusions
Imaging, surgical findings, histopathology and clinical outcome
in surgery for focal CHI match in most, but not all cases.
Ref: Ped. Endocrinol. Rev. 2016;14(2):129-137
doi: 10.17458/PER.2016.BVE.Surgeryinfocal
Key words: Focal congenital hyperinsulinism, 18F-DOPA
PET/CT, -MRI, Genetics, Surgery
Sequelae of GH Treatment in Children with PWS
Maïthé Tauber, MD, Gwenaelle Diene, MD, Catherine Molinas
Abstract
More than 15 years after rGH was granted marketing
authorization for children with PWS, a review of
the sequelae, side effects and safety issues of rGH
therapy is timely. The publications on issues concerning
respiratory function, glucose metabolism, fat mass, and
scoliosis at baseline and with rGH treatment are herein
presented. We discuss the impact of rGH side effects,
make proposals to prevent or treat them, and emphasise
the remaining questions and perspectives. As a whole,
the benefit /risk ratio is positive, although questions are
raised about the role of GH in premature pubarche and
its long-term effects, particularly the potential long-term
oncogenic risk. The organisation of care in dedicated or
reference centres at the national and European level will
facilitate the collection and analysis of data and serve as a
paradigm for long-term follow-up.
Ref: Ped. Endocrinol. Rev. 2016;14(2):138-146
doi: 10.17458/PER.2016.TDM.SequelaeofGH
Key words: Growth hormone, Sleep-related disordered
breathing, Diabetes mellitus, Impaired glucose tolerance,
Safety
Myopathy in Pediatric Thyroid States: A Review of the Literature
Elena Dingle, MD, Resmy Palliyil-Gopi, MD, Maria Contreras, MD,
Brenda Kohn, MD, Preneet Cheema Brar, MD
Abstract
This review highlights the presentations of myopathy
in children in both hypothyroid and hyperthyroid
states with an emphasis on the pathophysiology,
diagnosis and treatment. Based on our review of the
literature data, myopathy should be considered in all
children presenting with muscular weakness or altered
muscle enzymes in the context of thyroid disease.
Ref: Ped. Endocrinol. Rev. 2016;14(2):147-158
doi: 10.17458/PER.2016.DGC.MyopathyinPediatric
Key words: Myopathy, Hypothyroid, Hyperthyroid,
Creatinine kinase
Oral Health in Children with Obesity or Diabetes Mellitus
Fima Lifshitz, MD, Patricia Lucia Casavalle, MD, Noemí Bordoni, PhD, Patricia Noemi Rodriguez, PhD, Silvia Maria Friedman, PhD
Abstract
Oral health status must be considered in the care of
children with obesity (OB) and diabetes mellitus
(DM). The health of these patients’ mouths may
have significant effects on their overall health and
evolution of their disease. Here we address periodontal
disease (PD) and dental caries (DC), since these are two
of the most common chronic diseases affecting OB and DM
patients. OB plays a plausible role in the development of
PD. Both overall OB and central adiposity are associated
with increased hazards of gingivitis and its progression
to PD. The inflammatory changes of PD might not be
limited to the oral cavity, these may also trigger systemic
consequences. Patients with type 1 and type 2 diabetes
mellitus (T1DM, T2DM) present an increased prevalence
of gingivitis and PD. In diabetics PD develops at a younger
age than in the healthy population, it also worsens with
the prolongation of DM. The progression to PD has been
correlated with the metabolic control of the disease as
it is more prevalent and more severe in patients with
elevated hemoglobin A1c (A1c) levels. PD negatively affects
glycemic control and other diabetes related complications
and there is a general consensus that treatment of PD can
positively influence these negative effects. Additionally,
DC is a multifactorial oral disease that is frequently
detected in those with OB and DM, although its prevalence
in systematic reviews is inconclusive. The associations
between gingivitis, PD and DC share similar behaviors,
i.e. inadequate oral hygiene habits and unhealthy dietary
intake. Insufficient tooth brushing and intake of sugary
foods may result in greater detrimental oral effects.
Maintaining oral health will prevent oral chronic diseases
and ameliorate the consequences of chronic inflammatory
processes. Thus, the care of obese and diabetic patients
requires a multidisciplinary team with medical and dental
health professionals.
Ref: Ped. Endocrinol. Rev. 2016;14(2):159-167
doi: 10.17458/PER.2016.LCB.Oralhealth
Key words: Oral health, Gingivitis, Periodontitis, Dental
caries, Obesity, Diabetes mellitus
Meeting Report:
2016 Annual Meeting of the Pediatric Endocrine Society
Baltimore, MD (April 29-May 2, 2016) Selected Highlights
Alaina Vidmar, MD, Jonathan Weber, MD, Rajeev Thirunagari, MD,
Sungeeta Agrawal, MD, Madhia Shahid, MD
Ref: Ped. Endocrinol. Rev. 2016;14(2):168-189
doi: 10.17458/PER.2016.VWT.MR.PES2016
Key words: Congenital adrenal hyperplasia,
Pheochromocytoma, Paraganglioma, Adrenocortical
carcinoma, Subclinical hypothyroidism, Congenital
hypothyroidism, Tri-iodothyronine therapy, Type 1
diabetes, Optic nerve hypoplasia, Septo-optic dysplasia,
Craniopharyngioma, Hypothalamic obesity, Cushing disease,
Acromegaly, Hyperprolactinemia, Dopamine agonists